Gene

Apolipoprotein E

Biology

Cholesterol

Aché

Butyrylcholinesterase

Endocrinology

Alzheimer's disease

Biochemistry

Environmental health

Single-nucleotide polymorphism

Genetics

Age of onset

Genetic association

Allele frequency

Genotype

Enzyme

Population

Internal medicine

Odds ratio

Degenerative disease

Apolipoprotein B

Medicine

Allele

Acetylcholinesterase

Disease

American Journal of Medical Genetics

Butyrylcholinesterase (BChE) as well as acetylcholinesterase has been suggested to be associated with Alzheimer's disease (AD). Lehmann et al. [1997: Hum Mol Genet 6:1933–1936] recently reported the synergism between the gene for the K variant of BChE (BCHE-K) and the ϵ4 allele of apolipoprotein E (APOE ϵ4) in late-onset confirmed AD with Caucasian subjects. The authors found that the allelic frequency of BCHE-K was 0.17 in 74 subjects with late-onset histopathologically diagnosed AD, which was higher than the frequencies in elderly control subjects (0.09) and in other dementias (0.07–0.10). The association of BCHE-K with late-onset AD was limited to carriers of APOE ϵ4, giving odds ratios of confirmed late-onset AD of 6.9–12.8. In the present study, we report the BCHE-K allelic frequencies in late-onset AD cases and in age-matched controls of the Korean population, which were 0.22 and 0.17, respectively. We could not find any association between BCHE-K and AD regardless of APOE ϵ4 carrier status. However, APOE ϵ4 clearly showed higher frequency in AD (0.33) than in elderly controls (0.09), giving an odds ratio of 5.2 (95% confidence interval, 2.7–10.0). Our results do not support the conclusion that BCHE-K, or a nearby gene on chromosome 3, acts in synergy with APOE ϵ4 as a susceptibility gene for late-onset AD, at least in the Korean population. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:113–115, 1999. © 1999 Wiley-Liss, Inc.

No association between the genes for butyrylcholinesterase K variant and apolipoprotein E4 in late-onset Alzheimer's disease